N68D (p.Asn68Asp) variant of DSG1 (Desmoglein-1)
N68D (p.Asn68Asp) in DSG1 (Desmoglein-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
N68D (p.Asn68Asp) variant details
- p.Asn68Asp
- gnomAD 18-31326991-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.34
- MetaLR 0.24
- MetaSVM -0.65
- CADD 26.70
- PolyPhen-2 0.78
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available